A quick, two-minute cheek-swab test may identify children at risk of a potentially fatal heart condition up to five years before standard diagnosis, according to new research.
Arrhythmogenic cardiomyopathy (ACM), typically a genetic disorder, is responsible for over 10% of sudden cardiac deaths in children. It occurs when abnormalities in the proteins connecting heart cells disrupt the heart’s structure and electrical activity, often striking without warning.
Researchers from Great Ormond Street Hospital and St George’s, University of London found that these protein abnormalities are also present in the lining of the cheeks. By swabbing the inside of a child’s mouth, they were able to detect early signs of ACM.
The study, presented at the European Society of Cardiology congress in Madrid, tested 51 children with a known genetic risk of ACM. Over a seven-year period, participants were swabbed every three to six months. Ten children eventually developed ACM, and in eight of those cases, the cheek swabs identified the condition before other diagnostic tests.
In a second group of 21 children with no known genetic risk, five showed abnormalities on swab testing. The findings suggest that cheek swabs could provide a simple, non-invasive method for early detection.
Dr. Angeliki Asimaki, lead researcher, said: “Our test provides a window into microscopic changes happening in the heart, and it is totally risk-free and non-invasive. This has the potential to provide accurate and timely diagnosis of ACM, which could ultimately save lives.”
Researchers are now developing home test kits, allowing children to do the swab themselves and send samples to labs for analysis.
In the UK, ACM affects approximately 1 in 10,000 people, with symptoms including palpitations, fainting, breathlessness, abnormal heart rhythms, and swelling in the stomach or limbs.
Dr. Sonya Babu-Narayan of the British Heart Foundation, which funded the study, emphasized the importance of early detection: “This kind of simple, pain-free cheek swab test could identify children in the early stages of ACM who need extra care, or provide reassurance to at-risk children and their families with normal test results.”
